AAGAB and BBS4

		AAGAB	BBS4
Description		alpha and gamma adaptin binding protein	Bardet-Biedl syndrome 4
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GO Annotations	Cellular Component	Cytoplasm Cytosol Nuclear Speck	Pericentriolar Material Photoreceptor Outer Segment Photoreceptor Inner Segment Nucleus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Plasma Membrane Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Cell Projection Ciliary Membrane Non-motile Cilium
	Molecular Function	Protein Binding	Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Protein Transport	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neuron Migration Leukocyte Homeostasis B Cell Homeostasis Neural Tube Closure Retina Homeostasis Heart Looping Lymphocyte Homeostasis Myeloid Cell Homeostasis Negative Regulation Of Systemic Arterial Blood Pressure Centrosome Cycle Spermatid Development Sensory Perception Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Protein Transport Wnt Signaling Pathway Dendrite Development Regulation Of Lipid Metabolic Process Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Negative Regulation Of Actin Filament Polymerization Melanosome Transport Regulation Of Cytokinesis Leptin-mediated Signaling Pathway Protein Localization To Organelle Erythrocyte Homeostasis Microtubule Anchoring At Centrosome Social Behavior Photoreceptor Cell Outer Segment Organization Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Positive Regulation Of Multicellular Organism Growth Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Brain Morphogenesis Homeostasis Of Number Of Cells Sensory Processing Maintenance Of Protein Location In Nucleus Regulation Of Stress Fiber Assembly Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Face Development Adipose Tissue Development Fat Pad Development Protein Localization To Cilium Protein Localization To Centrosome Sperm Flagellum Assembly Regulation Of Non-motile Cilium Assembly Protein Localization To Photoreceptor Outer Segment Non-motile Cilium Assembly
Pathways			BBSome-mediated cargo-targeting to cilium
Drugs
Diseases			Bardet-Biedl syndrome (BBS)
GWAS		A body shape index ( 34021172) Allergic rhinitis ( 30013184) Asthma ( 31619474 31959851 29273806) Asthma (adult onset) ( 31036433) Asthma (childhood onset) ( 31036433) Bipolar disorder ( 31043756) Eosinophil count ( 32888494) Eosinophil percentage of white cells ( 32888494) FEV1 ( 30804560) Keratoconus ( 33649486) Lung function (FEV1/FVC) ( 30804560) Lung function (FVC) ( 30804560) Proportion of activated microglia (midfrontal cortex) ( 30679421) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172)	Body mass index ( 28448500 29273807) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index in physically active individuals ( 28448500) Mild obesity-related type 2 diabetes ( 34737425) Theory of mind score in adolescence (Emotional Triangles Task) ( 29472613) Triglycerides ( 30275531) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
Interacting Genes		4 interacting genes: AP2S1 EIF3C HEATR1 UNC119	23 interacting genes: ACTB BHMT CALCA CATSPERT DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG OAS1 PAX2 PCM1 RARA RARG REL SPIRE1 TOM1 TOM1L2 ZIC1
Entrez ID		79719	585
HPRD ID		07754	08982
Ensembl ID		ENSG00000103591	ENSG00000140463
Uniprot IDs		Q6PD74	A0A0S2Z3A9 B4DQR5 Q96RK4
PDB IDs		7TWD	6XT9
Enriched GO Terms of Interacting Partners?		Pigment Granule Localization Establishment Of Melanosome Localization Regulation Of Response To Food Microtubule Anchoring At Centrosome Pericentriolar Material Sensory Perception Sperm Flagellum Assembly Regulation Of Cilium Beat Frequency Mitotic Cytokinesis Visual Perception Protein Localization To Non-motile Cilium BBSome Maintenance Of Protein Location In Nucleus Intracellular Protein Localization Photoreceptor Cell Outer Segment Organization Retinal Rod Cell Development Negative Regulation Of Appetite Melanosome Localization Protein Transport Response To Leptin Establishment Of Protein Localization Protein Localization To Photoreceptor Outer Segment Brain Morphogenesis Microtubule Anchoring Cytoskeleton-dependent Cytokinesis Striatum Development Fat Pad Development Sensory Perception Of Light Stimulus Erythrocyte Homeostasis Melanosome Transport Leptin-mediated Signaling Pathway Ventricular System Development Face Development Sensory Processing Pigment Granule Transport Dynactin Binding Regulation Of Non-motile Cilium Assembly Retina Homeostasis Protein Localization To Centrosome Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Microtubule Anchoring At Microtubule Organizing Center Regulation Of Appetite Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Negative Regulation Of Systemic Arterial Blood Pressure Clathrin Adaptor Activity Postsynaptic Neurotransmitter Receptor Internalization AP-2 Adaptor Complex Endolysosome Membrane Endocytosis Regulation Of Endocytosis	Nucleus Localization Nuclear Migration Trachea Cartilage Development Glandular Epithelial Cell Development Centriolar Satellite DNA-binding Transcription Factor Activity Microtubule Anchoring At Centrosome Embryonic Organ Development Growth Plate Cartilage Development Positive Regulation Of Metabolic Process Cytoplasm Regulation Of Cell Development Positive Regulation Of Macromolecule Biosynthetic Process Cytosol Response To Peptide Vesicle-mediated Transport Response To Cytokine Microtubule Anchoring At Microtubule Organizing Center Surfactant Homeostasis Cis-regulatory Region Sequence-specific DNA Binding Tube Closure Camera-type Eye Development Cellular Response To Retinoic Acid Neural Tube Closure Columnar/cuboidal Epithelial Cell Development Embryonic Camera-type Eye Development Nucleoplasm Cartilage Development Involved In Endochondral Bone Morphogenesis Positive Regulation Of Biosynthetic Process Microtubule Organizing Center Positive Regulation Of Cell Development Positive Regulation Of Macromolecule Metabolic Process Transcription Regulator Complex Positive Regulation Of Transcription By RNA Polymerase II Response To Retinoic Acid Retinoic Acid Receptor Signaling Pathway Face Development Microtubule Anchoring Positive Regulation Of Nucleobase-containing Compound Metabolic Process Organelle Localization Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Establishment Of Organelle Localization Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Eye Development Protein-containing Complex Tube Formation Negative Regulation Of Cartilage Development Chromatin
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